Zietkiewicz Marcin, Hajduk Adam, Wojteczek Anna, Smoleńska Zaneta, Czuszyńska Zenobia, Zdrojewski Zbigniew
Katedra i Klinika Chorób Wewnetrznych, Chorób Tkanki Łacznej i Geriatrii Gdańskiego Uniwersytetu Medycznego, ul. Debinki 7, 80-952 Gdańsk.
Ann Acad Med Stetin. 2012;58(1):55-61.
The macrophage activation syndrome (MAS) is a rare and potentially fatal disease. This syndrome is founded on congenital or acquired dysfunction of NK cells resulting in secondary activation and proliferation of macrophages with excessive cytokine production and organ infiltration. Causes of acquired MAS include viral infections (chiefly EBV and CMV), malignancies, and autoimmune diseases. The macrophage activation syndrome is usually associated with juvenile idiopathic arthritis and adult-onset Still's disease and rarely with rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, and systemic sclerosis. Fever, hepatosplenomegaly, lymphadenopathy, and bi- or pancytopenia in peripheral blood represent typical symptoms of MAS. Hyperferritinemia, hypertriglyceridemia, hypertransaminasemia, and hypofibrinogenemia are among the common laboratory findings. The macrophage activation syndrome is a life-threatening condition requiring aggressive therapy due to multiple organ dysfunction. Treatment also includes elimination of the triggering infection and high-dose glucocorticosteroids. Second-line therapy is based on cyclosporin, intravenous immunoglobulins, and etoposide. The present work focuses on diagnostic and therapeutic difficulties in three patients with the macrophage activation syndrome.
巨噬细胞活化综合征(MAS)是一种罕见且可能致命的疾病。该综合征基于自然杀伤(NK)细胞的先天性或获得性功能障碍,导致巨噬细胞继发激活和增殖,并伴有细胞因子过度产生和器官浸润。获得性MAS的病因包括病毒感染(主要是EB病毒和巨细胞病毒)、恶性肿瘤和自身免疫性疾病。巨噬细胞活化综合征通常与幼年特发性关节炎和成人斯蒂尔病相关,很少与类风湿关节炎、系统性红斑狼疮、皮肌炎和系统性硬化症相关。发热、肝脾肿大、淋巴结病以及外周血双系或全血细胞减少是MAS的典型症状。高铁蛋白血症、高甘油三酯血症、高转氨酶血症和低纤维蛋白原血症是常见的实验室检查结果。巨噬细胞活化综合征是一种危及生命的疾病,由于多器官功能障碍需要积极治疗。治疗还包括消除引发感染和使用大剂量糖皮质激素。二线治疗基于环孢素、静脉注射免疫球蛋白和依托泊苷。本研究聚焦于三名巨噬细胞活化综合征患者的诊断和治疗难题。